Variant report

Variant	nsv961834
Chromosome Location	chr2:97724316-97726182
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:97726120-97726270	MCF-7	breast:	n/a	chr2:97726220-97726233
2	CTCF	chr2:97726100-97726250	MCF-7	breast:	n/a	chr2:97726220-97726233
3	FOSL2	chr2:97725623-97725988	HepG2	liver:	n/a	chr2:97725648-97725659
4	FOSL2	chr2:97725606-97726067	HepG2	liver:	n/a	chr2:97725648-97725659
5	FOXA1	chr2:97725603-97726286	HepG2	liver:	n/a	n/a
6	FOXA2	chr2:97725806-97726390	A549	lung:	n/a	n/a
7	FOXA2	chr2:97725861-97726228	A549	lung:	n/a	n/a
8	GATA3	chr2:97725799-97726037	MCF-7	breast:	n/a	n/a
9	JUND	chr2:97725811-97726030	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD36-6	chr2:97725682-97725753	NONHSAT072603
2	lnc-ANKRD36-6	chr2:97725865-97726152	NONHSAT072604
3	lnc-ANKRD36-6	chr2:97725875-97726126	NONHSAT072603

Variant related genes	Relation type
IGKV1OR2-3	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539847489	chr2:97724606-97724607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs28442139	chr2:97724858-97724859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556352318	chr2:97724872-97724873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75312899	chr2:97724877-97724878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76266233	chr2:97724886-97724887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74717426	chr2:97724907-97724908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149017294	chr2:97724924-97724925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142972975	chr2:97724947-97724948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181320453	chr2:97724969-97724970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185054075	chr2:97724977-97724978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574733706	chr2:97725131-97725132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540525408	chr2:97725313-97725314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189887536	chr2:97725326-97725327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554070309	chr2:97725348-97725349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371885166	chr2:97725393-97725394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs202085562	chr2:97725441-97725442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545798048	chr2:97725466-97725467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562402588	chr2:97725506-97725507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531308165	chr2:97725533-97725534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183155892	chr2:97725549-97725550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4063634	chr2:97725563-97725564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527912826	chr2:97725572-97725573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547661041	chr2:97725573-97725574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186397606	chr2:97725584-97725585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140237679	chr2:97725587-97725588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367919564	chr2:97725588-97725589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533142933	chr2:97725641-97725642	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs550160500	chr2:97725644-97725645	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs570009556	chr2:97725660-97725661	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs4063631	chr2:97725673-97725674	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs555938631	chr2:97725677-97725678	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs568247044	chr2:97725683-97725684	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs534007081	chr2:97725693-97725694	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs553756688	chr2:97725694-97725695	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs577075741	chr2:97725727-97725728	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs545435007	chr2:97725754-97725755	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs556120363	chr2:97725765-97725766	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs575672592	chr2:97725779-97725780	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs58601944	chr2:97725786-97725787	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs561471972	chr2:97725799-97725800	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs2698433	chr2:97725800-97725801	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs527849557	chr2:97725804-97725805	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs2443831	chr2:97725849-97725850	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs564585880	chr2:97725880-97725881	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs533682882	chr2:97725895-97725896	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs550257363	chr2:97725896-97725897	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs563693904	chr2:97725918-97725919	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs2443830	chr2:97725921-97725922	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs192007519	chr2:97725922-97725923	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs566201683	chr2:97725973-97725974	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-small cell lung cancer	16651412	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97724600-97724800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:97724600-97724800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:97724600-97724800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:97724800-97725800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:97725400-97726200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:97725800-97726200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:97725800-97726200	Enhancers	Ovary	ovary

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